Variant report

Variant	rs1027692
Chromosome Location	chr4:120788851-120788852
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10008120	0.94[EUR][1000 genomes]
rs1027691	0.91[EUR][1000 genomes]
rs10452195	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13115558	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13141731	0.80[EUR][1000 genomes]
rs1393967	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1503538	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17298990	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2174170	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28690386	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4280713	0.91[EUR][1000 genomes]
rs4834818	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4834819	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9991943	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1027692	BBS12	cis	cerebellum	SCAN
rs1027692	NLRP11	trans	lymphoblastoid	seeQTL
rs1027692	QRFPR	cis	cerebellum	SCAN

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120758600-120794000	Weak transcription	Aorta	Aorta

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links